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- Title
Rs6152G/a polymorphism of androgen receptor gene and polycystic ovary syndrome.
- Authors
Peng, C. Y.; Long, X. Y.; Lu, G. X.
- Abstract
Introduction: Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women representing for investigation of infertility, hirsutism, obesity and/or male baldness. The familial aggregation of PCOS suggests a possible molecular genetic basis of this syndrome, perhaps involving the genes encoding proteins involved in androgen synthesis and the regulation of insulin synthesis and action. Recently, the androgen receptor gene (AR) was implicated in playing a critical role in the aetiology of PCOS. The polymorphisms of AR have been the source of great interest in many studies, investigating cardiovascular disease, carcinoma of prostate, PCOS and androgenetic alopecia. The rs6152 G/A polymorphism in the AR is associated with male pattern baldness, but the rs6152 G/A polymorphism has been rarely investigated in polycystic ovary syndrome up to now. In this study, the authors determine whether the rs6152 G/A polymorphism is genetically associated with this common endocrine disorder. Materials/Methods: A total of 105 PCOS patients of Chinese Han race origin were selected from the Institute of Human Reproduction and Stem Cell Engineering, Central South University. As mentioned in the ESHRE/ASRM the inclusion criteria for PCOS patients are at least two of the following: oligo-ovulation or anovulation (usually manifested as oligomenorrhoea or amenorrhoea), elevated concentrations of circulating androgens (hyperandrogenemia) or clinical manifestations of androgen excess (hyperandrogenism), and polycystic ovaries as defined by ultrasonography. In all, 124 tubal factor or male infertility patients served as controls. Informed consent was obtained from all subjects. The rs6152 G/A polymorphism was amplified from patients' and control DNA by polymerase chain reaction (PCR), and the amplified products were digested by StuI endonuclease. Digested products were submitted to electrophoresis through a 2.5% agarose gel containing ethidium bromide, and visualized using an ultraviolet transilluminator. The possible digest products are: two bands at 329 bp and 87 bp for GG, three bands at 416 bp, 329 bp and 87 bp, for GA, and only one at 416 bp for AA. Partially amplified products were identified by comparing the detected PCR fragment to sequencing reactions. Comparisons of allele frequency between cases and controls were analysed by spss11.0. Results: The authors investigated the allelic frequency and genotype distribution of the AR rs6152 G/A polymorphism in 229 patients undergoing ovarian stimulation. Only the G allelic frequency was found in 124 control patients, while the allelic frequency was 0.98 for the G allele and 0.02 for the A allele in PCOS patients. The A allele frequency in the PCOS population was not significantly different compared with the control group (0.02% versus 0, P = 0.094). Conclusions: Since the A allele of the rs6152 G/A polymorphism was only present in PCOS patients, the rs6152 G/A polymorphism may play some role in the development or progression of PCOS. Women with the A allele may be more predisposed to this common endocrine disorder.
- Subjects
POLYCYSTIC ovary syndrome; INFERTILITY
- Publication
Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, Vol 16, Issue S2, pS-40
- ISSN
1472-6483
- Publication type
Abstract
- DOI
10.1016/S1472-6483(10)61567-2